Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated uridine in urine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, I... |
OMIM:615703 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria |
OMIM:613646 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Increased bone mineral d... |
OMIM:190320 |
Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Splenomegaly, Diabetes mellitus, Coron... |
ORPHA:79083 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Ventricular arrhythmia, Abnormal atrioventricular conduction, Splenomegaly,... |
ORPHA:280365 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... |
OMIM:615897 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... |
OMIM:613501 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus ... |
ORPHA:280356 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Diabetes mellitus, Ectopic ossification |
OMIM:602475 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholest... |
OMIM:610947 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... |
OMIM:203800 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Insulin resistance... |
ORPHA:2348 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Obesity, R... |
OMIM:300310 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Recurrent ear infections, Abnormal eating behavior, Hypogonadism, Micropenis, Recurre... |
OMIM:614962 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Fasting hypoglycemia, Neonatal hypoglycemia, Episodic hyperhidrosis, Polyphagia, Palpita... |
ORPHA:324575 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatos... |
ORPHA:79084 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Osteolytic defects ... |
OMIM:265800 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Fatigue, Diarrhea, Abnormal erythrocyte enzy... |
ORPHA:370 |
Thrombocytopenic Purpura, Autoimmune |
|
Platelet antibody positive |
OMIM:188030 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... |
ORPHA:369 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Flynn-Aird Syndrome |
|
Carious teeth, Increased bone density with cystic changes, Alopecia of scalp, Osteoporosis, Alope... |
OMIM:136300 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Chronic kidney diseas... |
ORPHA:275555 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... |
ORPHA:66628 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:435660 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Fatigue, Diarrhea, Abnormal er... |
ORPHA:264580 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:79085 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... |
ORPHA:435651 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglyce... |
ORPHA:276556 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... |
ORPHA:179494 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Lacticaciduria... |
OMIM:619386 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Lichtenstein Syndrome |
|
Carious teeth, Hirsutism, Neutropenia, Decreased circulating IgA level, Increased susceptibility ... |
OMIM:246550 |
Retinal Venous Beading |
|
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Sacc... |
OMIM:180080 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Broad jaw, Increased bone mineral density |
ORPHA:178377 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myalgia, Hepati... |
OMIM:610717 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Incr... |
ORPHA:2410 |
Isolated Osteopoikilosis |
|
Cleft palate, Sclerosis of foot bone, Sclerotic foci in hand bones, Abnormal bone ossification, T... |
ORPHA:166119 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity, Hypertrigly... |
ORPHA:71529 |
Ovarian Dysgenesis 1 |
|
Osteoporosis, Increased circulating gonadotropin level |
OMIM:233300 |
Immunodeficiency 66 |
|
Sepsis, Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... |
OMIM:278000 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... |
OMIM:614372 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Primary Lipodystrophy |
|
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Type IV atherosclero... |
ORPHA:90970 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Elevated transferrin ... |
OMIM:613313 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorr... |
ORPHA:528 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... |
ORPHA:572 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Abnormality of secondary sexual hair, Hypogonadotropic hypogonadism, Pi... |
ORPHA:95619 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Oligomenorrhea, Insulin... |
OMIM:604367 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Splenomegaly, Fatigue, Postnatal growth retardation, Diarrhea, Hepatic fibr... |
ORPHA:79240 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceride... |
OMIM:608600 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... |
OMIM:613502 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... |
OMIM:616022 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... |
ORPHA:3352 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone mineral density |
ORPHA:3152 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... |
OMIM:619220 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteoscleros... |
OMIM:607634 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... |
ORPHA:210110 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Oligomenorrhea, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Type IV ather... |
ORPHA:412 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Diffuse cerebral calcification, Increased bone mineral ... |
OMIM:259660 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... |
OMIM:232400 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, Absence of seco... |
ORPHA:2235 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Acne, Male infertility, Precocious puberty |
ORPHA:3000 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hypoglycemia, Decre... |
ORPHA:79319 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, In... |
OMIM:151660 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome, Abnormal mitral valve morpholo... |
ORPHA:1192 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Abnormality of iron homeost... |
ORPHA:79230 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating parathyroid hormone level, Mandibular prognathia, Diaphyseal sclerosis, Cran... |
OMIM:122860 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Macroscopic hematuria, Hydronephrosis, Decreased specific pneumoc... |
OMIM:613496 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction, Chest pain |
OMIM:608320 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hepatomegaly, Insulin resistance, Caudate atrophy, Neuronal loss in central nervous... |
ORPHA:363400 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Citrullinemia Type Ii |
|
Hyperlipidemia, Decreased body mass index, Enuresis, Diarrhea, Decreased HDL cholesterol concentr... |
ORPHA:247585 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Microcephaly, Splenomegaly |
ORPHA:2204 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Orthostatic hypotension, Glucose intolerance, Impaired glucose tolerance, Pan... |
OMIM:606721 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... |
OMIM:618534 |
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies |
|
Distal arthrogryposis, Micrognathia, Arthrogryposis multiplex congenita, Camptodactyly of finger,... |
OMIM:208080 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract... |
ORPHA:69663 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic h... |
OMIM:602579 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... |
OMIM:612692 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Selective Igm Deficiency |
|
Sepsis, Thyroid carcinoma, Non-infectious meningitis, Severe varicella zoster infection, Recurren... |
ORPHA:331235 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... |
OMIM:605258 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutrop... |
OMIM:209920 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Sepsis, Normocytic anemia, Pneumonia, Normochromic anemia, Glomerul... |
ORPHA:247691 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Broad jaw, Osteopenia, Mandibular osteomyelitis, Recurrent fractures |
ORPHA:53697 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Precocious atherosclerosis, Hypert... |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Precocious atherosclerosis, Hypert... |
OMIM:145750 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Masp2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:613791 |
Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistaxis, Impaired ... |
OMIM:619267 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... |
OMIM:610163 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Abnormal morphology of female internal genitalia, Br... |
OMIM:193670 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Vitreoretinopathy, Neovascular Inflammatory |
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Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Platelet Signal Processing Defect |
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Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent bronchitis, Decreased circulating IgA l... |
OMIM:240500 |
Functioning Gonadotropic Adenoma |
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Abnormal prolactin level, Abnormality of secondary sexual hair, Increased serum testosterone leve... |
ORPHA:91348 |
Primary Membranoproliferative Glomerulonephritis |
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Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Myocardial infarction, Renal in... |
ORPHA:54370 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Dystrophic fingernails, Foot acroosteolysis, Dystrophic toenail, Abnormal cortical bone morpholog... |
ORPHA:970 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... |
ORPHA:79259 |
Moyamoya Disease With Early-Onset Achalasia |
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Hypertension, Abnormal platelet aggregation, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Dentinogenesis imperfecta, Abnormal cortical bone morphology, Limitation of joint mobility, Patho... |
ORPHA:166277 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Pgm3-Cdg |
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Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... |
ORPHA:443811 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Hypoalphalipoproteinemia, Primary, 1 |
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Myocardial infarction, Premature coronary artery atherosclerosis, Decreased HDL cholesterol conce... |
OMIM:604091 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Bra... |
ORPHA:77296 |
Disseminated Sclerosis With Narcolepsy |
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Narcolepsy |
OMIM:223300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe... |
OMIM:618805 |
Schimke Immuno-Osseous Dysplasia |
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Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... |
ORPHA:1830 |
Central Retinal Vein Occlusion |
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Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Proteinuria, Chronic Benign |
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Albuminuria, Proteinuria |
OMIM:618884 |
Non-Functioning Pituitary Adenoma |
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Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Propionic Acidemia |
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Hepatomegaly, Eczema, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Vomiting, Failure to th... |
OMIM:606054 |
Osteogenesis Imperfecta, Type V |
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Limited pronation/supination of forearm, Osteopenia, Joint hypermobility, Recurrent fractures, De... |
OMIM:610967 |
Late-Onset Junctional Epidermolysis Bullosa |
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Carious teeth, Nail dystrophy, Enamel hypoplasia, Hyperhidrosis, Oral mucosal blisters |
ORPHA:79406 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:85450 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Arteriosclerosis, Hypertriglyceridem... |
ORPHA:75234 |
Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Abnormal localization of kidney,... |
ORPHA:446 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hyperlipidemia, Cardiac conduction abnormality, Diabetes m... |
ORPHA:439232 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... |
OMIM:616222 |
Exudative Vitreoretinopathy 2, X-Linked |
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Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Ethylmalonic aciduria, Hypoglycemia, Lacticaciduria, Glutaric aciduria, Elevated circulating acyl... |
ORPHA:26791 |
Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Gonadal neoplasm, Increased serum serotonin, ... |
ORPHA:180229 |
Acquired Generalized Lipodystrophy |
|
Hypertension, Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal cir... |
ORPHA:79086 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated c... |
ORPHA:567544 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosyn... |
OMIM:147060 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Bone ... |
OMIM:166600 |
Aicardi-Goutieres Syndrome 9 |
|
Increased blood pressure, Hepatosplenomegaly, Micropenis, Acute pancreatitis, Cerebral atrophy, P... |
OMIM:619487 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Eczema, Severe varicella zoster infection, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes m... |
OMIM:606367 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Vomiting, Failure... |
OMIM:251880 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Bone-marrow foam cells, Hepatos... |
ORPHA:275761 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Accelerated ath... |
OMIM:618620 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... |
OMIM:133780 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... |
ORPHA:911 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Palpitations, Hyperinsulinemi... |
ORPHA:97279 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... |
OMIM:301033 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... |
ORPHA:171706 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating IgG level, Downturned corners of mouth, Enamel hypoplasia, Dec... |
ORPHA:2643 |
Extracranial Carotid Artery Aneurysm |
|
Hypertension, Total anomalous pulmonary venous return, Pain, Cerebral ischemia, Arterial fibromus... |
ORPHA:494424 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Palpitations, Recurrent pancreatiti... |
OMIM:619290 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Increased level of gala... |
ORPHA:79237 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Postural hypotension with compensatory tachycardia, Obesity, Hyp... |
ORPHA:369873 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Re... |
OMIM:201475 |
Coach Syndrome 2 |
|
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulatin... |
OMIM:619111 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hepatomegaly, Renal artery atherosclerosis, Hyperlipidemia,... |
ORPHA:565612 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Nausea, Back pain, Recurrent urinary tract infections, Allodynia, Hyperhidrosis, Decreased body w... |
ORPHA:51890 |
Seckel Syndrome 10 |
|
Hypertension, Abdominal aortic aneurysm, Elevated circulating follicle stimulating hormone level,... |
OMIM:617253 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... |
ORPHA:2298 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Temple Syndrome |
|
Type II diabetes mellitus, Polyphagia, Decreased response to growth hormone stimulation test, Rec... |
ORPHA:254516 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Osteoporosis, Elevated circulating follicle stimu... |
OMIM:618187 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... |
OMIM:308230 |
Complement Component 7 Deficiency |
|
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Platelet aniso... |
OMIM:619271 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Incr... |
OMIM:618495 |
Atherosclerosis Susceptibility |
|
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Immunodeficiency 23 |
|
Eczema, Severe varicella zoster infection, Neutropenia, Recurrent staphylococcal infections, Recu... |
OMIM:615816 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Lymphadenopathy, Chronic otitis media, Recurrent infections, Recurrent candida... |
ORPHA:83471 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Diaph... |
ORPHA:94089 |
Werner Syndrome |
|
Hypertension, Secondary amenorrhea, Thyroid carcinoma, Type II diabetes mellitus, Ovarian neoplas... |
ORPHA:902 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Retinal degeneration, Renal dysplasia, Recurrent otitis media, Renal cyst, Rod-co... |
OMIM:615993 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Cach Syndrome |
|
Secondary amenorrhea, Dysphagia, Cerebellar atrophy, Renal hypoplasia, Nonketotic hyperglycinemia... |
ORPHA:135 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... |
OMIM:612526 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Hall-Riggs Mental Retardation Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, U-Shape... |
OMIM:234250 |
Complement Component 6 Deficiency |
|
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... |
OMIM:612446 |
Perrault Syndrome 1 |
|
Osteoporosis, High palate, Increased circulating gonadotropin level |
OMIM:233400 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Anem... |
OMIM:259710 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Sparse lateral eyebrow, Enamel hypoplasia, Recurrent respiratory infections, Hypoh... |
ORPHA:363523 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Impaire... |
OMIM:613179 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... |
OMIM:617156 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Recurrent herpes, Failure to thrive sec... |
ORPHA:169160 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Malar flattening, Advanced ossification of carpal bones... |
OMIM:215045 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Postural tremor, Dysphagia, Infertility, Type II diabetes mellitus, Oligomenorrhea, Cerebellar at... |
ORPHA:412057 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Recurrent opportunistic infections, Lack of T ce... |
ORPHA:277 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hypocho... |
OMIM:212065 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Fatigue, Elevate... |
ORPHA:263455 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Neutropenia, Decreased circulating IgG level, Enamel hypoplasia, Decreased circulat... |
OMIM:251190 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Decreased platelet glycopr... |
OMIM:173470 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
Glycogen Storage Disease Ia |
|
Hypertension, Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hep... |
OMIM:232200 |
Leptin Receptor Deficiency |
|
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Recurrent upper respiratory tract... |
OMIM:614963 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... |
OMIM:618944 |
Al Amyloidosis |
|
Gastroparesis, Gastrointestinal hemorrhage, Fatigue, Autonomic erectile dysfunction, Elevated cir... |
ORPHA:85443 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased response to growth hormon... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased response to growth hormon... |
ORPHA:71526 |
Shaheen Syndrome |
|
Microcephaly, Enamel hypoplasia, Carious teeth, Hypohidrosis |
OMIM:615328 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia, Increased... |
OMIM:209950 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hypoglycemia, Hepatocellular necrosis, Hep... |
OMIM:231100 |
Pycnodysostosis |
|
Carious teeth, Decreased serum insulin-like growth factor 1, Obtuse angle of mandible, Hepatosple... |
ORPHA:763 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... |
OMIM:601859 |
Tangier Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Myocardial infarction, Left ... |
OMIM:205400 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... |
ORPHA:163976 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... |
ORPHA:37748 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Insulin resistance, Elevated... |
OMIM:613327 |
Glanzmann Thrombasthenia 1 |
|
Intracranial hemorrhage, Impaired clot retraction, Epistaxis, Decreased platelet glycoprotein IIb... |
OMIM:273800 |
Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Chest pain, Hemat... |
ORPHA:549 |
Lipase Deficiency, Combined |
|
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polyphagia, Tall stature, Insulin-resistant diabetes m... |
OMIM:269700 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Ane Syndrome |
|
Carious teeth, Hypodontia, Premature loss of teeth, Decreased serum insulin-like growth factor 1,... |
ORPHA:157954 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Delayed eruption of teeth |
OMIM:612463 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Vomiting, Nausea, Hyperglycemia, ST segment depressio... |
ORPHA:90065 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Vomiting, Methylmalonic acidu... |
OMIM:251000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Hypoglycemia, Vomiting, Insulin resistance, Orthostatic hypotension, Orthostatic syncope... |
ORPHA:230 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Seizure, Joint hypermobility, Mild malformation of cortical developme... |
ORPHA:500166 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... |
OMIM:613759 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis |
OMIM:615468 |
Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Prem... |
ORPHA:3156 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Flynn-Aird Syndrome |
|
Cachexia, Type II diabetes mellitus, Primary adrenal insufficiency, Abnormality of the thyroid gl... |
ORPHA:2047 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Macroorchidism, Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-... |
ORPHA:90790 |
Gaisböck Syndrome |
|
Fatigue, Diabetes mellitus, Increased circulating renin level, Epigastric pain, Coronary artery a... |
ORPHA:90041 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Recurrent viral infections, Thrombocytopenia, Impaired platelet ... |
OMIM:617443 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Hypo... |
ORPHA:562 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Failure to thrive, Cardiomyopathy, Pancreatitis, Splenomegaly, Hyperammonemia, Rena... |
ORPHA:79312 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis, Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusio... |
ORPHA:90650 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypertriglycerid... |
OMIM:603813 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Vomiting, Failure to thrive, Abnormal heart morphology, Patent ductus arteriosus, D... |
OMIM:608104 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Increased urinary glycerol, Hyper... |
OMIM:307030 |
Neurotrophic Keratopathy |
|
Allodynia, Diabetes mellitus, Anterior uveitis |
ORPHA:137596 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polyphagia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Polycysti... |
OMIM:608594 |
Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Osteoporosis, Thin vermilion border, Long eyelashes, Joint hypermobility, Increase... |
OMIM:614856 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... |
OMIM:187950 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Hyperammonemia, Cirrhosis, ... |
OMIM:271500 |
Relapsing Fever |
|
Chills, Vomiting, Abnormality of the urinary system, Elevated circulating creatinine concentratio... |
ORPHA:91547 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatosplenomegaly, Elevated circulating alkaline ph... |
ORPHA:84081 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Small for gestational age, Renal dysplasia, Elevated circulating creatinine concent... |
OMIM:616733 |
Alg1-Cdg |
|
Hypoalbuminemia, Cerebellar atrophy, Nephrotic syndrome, Abnormal heart morphology, Cardiomyopath... |
ORPHA:79327 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... |
OMIM:609734 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections |
OMIM:613789 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Patent d... |
OMIM:616000 |
Familial Expansile Osteolysis |
|
Premature loss of teeth, Thin bony cortex, Pathologic fracture, Fragile teeth, Osteolysis |
OMIM:174810 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Precocious puberty, Pancreatic... |
OMIM:246200 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Polyphagia, Vomiting, Failure to thrive, Weight loss, Primary hypothyroid... |
ORPHA:95427 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... |
OMIM:144300 |
Pyle Disease |
|
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Red... |
OMIM:265900 |
Complement Factor D Deficiency |
|
Complement deficiency, Recurrent bacterial infections |
OMIM:613912 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Micrognathia, High palate, Thin bony cortex, Malar flattening, Obtuse angle of mandible, Osteopen... |
ORPHA:85184 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal neovascularization, Retinal detachment, Vitreo... |
OMIM:193220 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Abnormality of the ovary, Hepatic fibrosis, Insulin resistance, Truncal obesity, Hy... |
OMIM:209900 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal circulating lipid concentration, Weight loss, Hyperlipoproteinemia, Type I dia... |
ORPHA:1979 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Abnormal mitral valve morphology |
ORPHA:903 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Failure to thrive, Splenomegaly, Myalgia, Increased circulating ferritin concentra... |
OMIM:616050 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... |
ORPHA:53 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Glucose intolerance,... |
OMIM:615630 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Proteinuria, Hypertriglyceridemia, Foam cells, Renal ins... |
OMIM:245900 |
Ck Syndrome |
|
Micrognathia, High palate, Malar flattening, Abnormal cortical bone morphology, Joint hypermobili... |
OMIM:300831 |
Joubert Syndrome 26 |
|
Central hypothyroidism, Cleft palate, Cleft lip, Recurrent upper respiratory tract infections, Pa... |
OMIM:616784 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... |
ORPHA:2088 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections, Decreased serum complement factor H, Hematuria, Depletion of comp... |
OMIM:609814 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Coarse metaphyseal trabecularizatio... |
ORPHA:1782 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Chronic otitis media, Abnormality of the hypothalamus-pituitary axis, Recurrent intrap... |
ORPHA:900 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sinusitis, Chills, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain,... |
ORPHA:36234 |
Bloom Syndrome |
|
Oligospermia, Neoplasm of the skin, Acute lymphoblastic leukemia, Severe varicella zoster infecti... |
ORPHA:125 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Neuronal loss in central nervous system, Tremor, Hypertriglyceridemia, Cerebral atr... |
OMIM:615924 |
Glycogen Storage Disease Ib |
|
Hypertension, Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hep... |
OMIM:232220 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Mitral valve prolapse, Precocious atherosclerosis, Myalgia, Arthralgia, Gastrointestinal hemorrha... |
ORPHA:230839 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Decreased circulating IgG... |
OMIM:102700 |
Alg6-Cdg |
|
Failure to thrive, Abnormality of the liver, Increased circulating androgen concentration, Hypoal... |
ORPHA:79320 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, F... |
OMIM:615934 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Decreased glomerular filtration rate, Chronic kidney disease, Dilatation of... |
ORPHA:730 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Skin rash |
OMIM:619175 |
Hardikar Syndrome |
|
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Patent d... |
OMIM:301068 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... |
ORPHA:231226 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Increased susceptibility to fractures, Hyperostosis, Dentinogenesis imperfecta, Li... |
OMIM:604922 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... |
OMIM:616829 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Trigeminal Neuralgia |
|
Allodynia, Ocular pain, Trigeminal neuralgia, Vascular tortuosity, Mandibular pain |
ORPHA:221091 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentratio... |
ORPHA:49041 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Cerebral atrophy, Pulmonar... |
ORPHA:306550 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Elevated tissue non-specific alkaline phosphatase, Glucose intolerance,... |
ORPHA:785 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia, Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes melli... |
OMIM:615381 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Chills, Hyperammonemia, Uveitis, Maculopapular exanthema, Diarrhea, Abdominal pain,... |
ORPHA:99826 |
Pseudoxanthoma Elasticum |
|
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Nephrocalc... |
ORPHA:758 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased response to growth hormone stimulation te... |
ORPHA:470 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Congenital hepatic fibrosis, Displacement of the urethral meatus, Obes... |
ORPHA:2377 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... |
OMIM:618666 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... |
OMIM:603471 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Failure... |
OMIM:617475 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased glo... |
ORPHA:650 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stag... |
OMIM:617575 |
Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Goiter, Splenomegaly, Sinus tachycardia, Diarrhea, Graves disease... |
ORPHA:525731 |
Microscopic Polyangiitis |
|
Sinusitis, Gastrointestinal hemorrhage, Vasculitis, Uveitis, Diarrhea, Abdominal pain, Pericardit... |
ORPHA:727 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion |
OMIM:209050 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Ocular albinism, Chronic oral candidiasis, Recurrent... |
OMIM:608233 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutan... |
ORPHA:499 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Cerebral calcification |
OMIM:225755 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco... |
ORPHA:2968 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to multiple fr... |
OMIM:259440 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... |
ORPHA:906 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... |
ORPHA:436182 |
Beemer-Ertbruggen Syndrome |
|
Micrognathia, Deep philtrum, Increased bone mineral density, Thrombocytopenia, Cryptorchidism |
ORPHA:1237 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Micrognathia, Sparse eyelashes, Smooth philtrum, Alopecia, Malar flattening, Midli... |
OMIM:129540 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemorrhage, Vasculitis, Microsco... |
ORPHA:91139 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain, Splenomegaly |
OMIM:118830 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, ... |
OMIM:259700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased... |
OMIM:615285 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Seizure, Polymicrogyria, Hyp... |
OMIM:604213 |
Diastrophic Dysplasia |
|
Micrognathia, Cleft palate, Recurrent respiratory infections, Increased bone mineral density, Cam... |
ORPHA:628 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Avian Influenza |
|
Infectious encephalitis, Pneumonia, Vomiting, Elevated circulating creatine kinase concentration,... |
ORPHA:454836 |
Transaldolase Deficiency |
|
Telangiectasia, Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Small for gestational ... |
OMIM:606003 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Mirage Syndrome |
|
Hypospadias, Sepsis, Adrenal insufficiency, Hypoglycemia, Shawl scrotum, Hyponatremia, Myelodyspl... |
OMIM:617053 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... |
ORPHA:99226 |
Turner Syndrome |
|
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... |
ORPHA:881 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Hypodontia, Microdontia, Pancytopenia, Nail dystrophy, Bone marrow hypocellularity,... |
OMIM:617052 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tachycardia, Tremo... |
ORPHA:276608 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Reduced ejection fraction, Vomiting, Nausea, Elevated circulating creatin... |
ORPHA:542323 |
Mulibrey Nanism |
|
Hypodontia, Hypoplastic frontal sinuses, Thickened cortex of long bones, Microglossia, Absent fro... |
OMIM:253250 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Fatigue, Chronic kidney disease, Elevated circulating C-reactive pr... |
ORPHA:449395 |
Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Myocardial steatosis, Hyperlipidemia, Premature coronary artery atheros... |
ORPHA:391665 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Central hypothyroidism, Double outlet right ventricle, Chronic kidney... |
ORPHA:1667 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... |
OMIM:307200 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec... |
OMIM:617744 |
C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage... |
ORPHA:329918 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Chills, Cardiac conduction abnormality, ST segment depression, Acu... |
ORPHA:466677 |
46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Streak ovary, Sparse pubic hair, Decreased serum estradiol,... |
ORPHA:243 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Periodontitis, Diabete... |
ORPHA:739 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Postnatal gro... |
ORPHA:254531 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Patent d... |
OMIM:615382 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... |
OMIM:241200 |
Benign Schwannoma |
|
Abnormality of the liver, Pain, Allodynia, Abnormality of the adrenal glands |
ORPHA:252164 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Nephrotic syndrome, Decreased serum complement C3, Membranoprolif... |
OMIM:613779 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Constitutional symptom, Pericarditis, Weight loss, Pancreatitis, Myalgia, Oliguria, ... |
ORPHA:188 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... |
ORPHA:231214 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Decreased serum creatinine, Myocardial infarction, Acute kidney injury, Proteinuria, A... |
ORPHA:54057 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia |
ORPHA:177910 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... |
OMIM:312863 |
Caroli Disease |
|
Cholangitis, Chills, Cholangiocarcinoma, Splenomegaly, Conjugated hyperbilirubinemia, Elevated ci... |
ORPHA:53035 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Recurrent mycobacterial infections |
OMIM:616126 |
Familial Cerebral Saccular Aneurysm |
|
Hypertension, Aortic dissection, Intracranial hemorrhage, Abnormal circle of Willis morphology, A... |
ORPHA:231160 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgita... |
OMIM:603585 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Cockayne Syndrome |
|
Abnormal renal physiology, Splenomegaly, Postnatal growth retardation, Diabetes mellitus, Cerebra... |
ORPHA:191 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B ce... |
OMIM:615559 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations, Myalgia |
ORPHA:488650 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepato... |
OMIM:612840 |
Parathyroid Carcinoma |
|
Shortened QT interval, Thyroid carcinoma, Hypophosphatemia, Abnormality of the parathyroid morpho... |
ORPHA:143 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Delayed eruption of teeth, Hypogona... |
OMIM:612462 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... |
OMIM:137920 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure |
OMIM:300886 |
Pelizaeus-Merzbacher Disease |
|