Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Keratosis, Focal Palmoplantar And Gingival |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
OMIM:148730 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma |
OMIM:613000 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... |
ORPHA:71529 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type ... |
ORPHA:453533 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... |
ORPHA:71526 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... |
OMIM:262700 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... |
ORPHA:280356 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Woolly Hair-Skin Fragility Syndrome |
|
Acantholysis, Palmoplantar keratoderma |
OMIM:620415 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:617885 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... |
ORPHA:435660 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypertrichos... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept... |
OMIM:615238 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Immunodeficiency 18 |
|
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... |
OMIM:615615 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... |
OMIM:617241 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... |
OMIM:240500 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
Solitary Fibrous Tumor |
|
Hypoinsulinemia, Weight loss, Hypoglycemia, Recurrent hypoglycemia |
ORPHA:2126 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the ... |
ORPHA:2457 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... |
OMIM:609197 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... |
OMIM:300853 |
Tenorio Syndrome |
|
Hypoinsulinemia, Thick eyebrow, Hypoglycemia, Hypertrichosis |
OMIM:616260 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... |
ORPHA:2298 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
Danon Disease |
|
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... |
OMIM:300257 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... |
OMIM:608612 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circu... |
OMIM:615363 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... |
ORPHA:280365 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Umbilical hernia, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Reduced ... |
OMIM:608594 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, R... |
OMIM:269700 |
Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Hypotension, Abnormal circulating interleukin concentration, Abnormality of tumor nec... |
ORPHA:70578 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased... |
OMIM:131100 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... |
ORPHA:95496 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Dilated cardiomyopathy, Increased circulating int... |
ORPHA:3243 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... |
OMIM:616113 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... |
OMIM:600802 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion cont... |
OMIM:609069 |
Acute Lung Injury |
|
Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Abnormal circ... |
ORPHA:178320 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:603909 |
Mhc Class Ii Deficiency 1 |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M... |
ORPHA:778 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:572 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Patent ductus arteriosus, Impaired T cell ... |
OMIM:614576 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Atypical Werner Syndrome |
|
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abn... |
ORPHA:79474 |
Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physiology, Impa... |
OMIM:613179 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin |
OMIM:614008 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function |
ORPHA:1830 |
Immunodeficiency 58 |
|
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... |
OMIM:618131 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... |
OMIM:301000 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Portal hypertension, Splenomegaly |
ORPHA:567983 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Severe failure to th... |
ORPHA:740 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Elevated circulating hepatic transaminase concentration |
OMIM:260400 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... |
ORPHA:391665 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy |
ORPHA:68 |
22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Impaired T cell function |
OMIM:188400 |