Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... |
OMIM:613494 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... |
OMIM:613495 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... |
OMIM:613493 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... |
OMIM:243150 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... |
OMIM:613501 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Dec... |
ORPHA:209964 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
Zollinger-Ellison Syndrome |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:913 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa... |
ORPHA:100082 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to... |
ORPHA:99886 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... |
OMIM:618944 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency, Decreased activity of mitochondrial complex IV |
OMIM:619025 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... |
ORPHA:403 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... |
ORPHA:2070 |
Familial Hyperaldosteronism Type Ii |
|
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... |
ORPHA:404 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... |
OMIM:616873 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... |
ORPHA:324575 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... |
OMIM:175500 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio |
OMIM:616941 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle... |
ORPHA:319552 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Excessive i... |
ORPHA:276580 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... |
OMIM:615703 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein... |
ORPHA:103910 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Excessive i... |
ORPHA:276575 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... |
OMIM:615895 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... |
ORPHA:90791 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries, ... |
ORPHA:280356 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... |
OMIM:620449 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism |
OMIM:262700 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hepatic steatosis, Hypocalcemi... |
OMIM:612526 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... |
OMIM:605911 |
Zygomycosis |
|
Cellulitis, Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Abdom... |
ORPHA:73263 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Diarrhea, Gastrointestinal ... |
ORPHA:79076 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep... |
OMIM:613812 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Impaired Ig class switch recombination, Recurrent infection of th... |
OMIM:608184 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe... |
OMIM:618183 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... |
OMIM:500013 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556037 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Hepatic failure, Giant cell hepatitis, Intrahepatic cholestasis, Elevated circulati... |
OMIM:214950 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71526 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent respiratory infections, I... |
OMIM:300635 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypertrophi... |
ORPHA:276556 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Chorioretinal scar, Malabsorption, Subarachno... |
OMIM:277175 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Intraalveolar phosph... |
OMIM:620565 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556030 |
Familial Hyperaldosteronism Type Iii |
|
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi... |
ORPHA:90003 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... |
ORPHA:464321 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... |
OMIM:614699 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Elevated circulati... |
ORPHA:79095 |
Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
Mody |
|
Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva... |
ORPHA:552 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Cholestasis, Polyphagia, Low plasma citrulline, Weight loss, Abdominal distention, Abno... |
ORPHA:95427 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Decre... |
ORPHA:90790 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weight loss, Hepat... |
OMIM:615846 |
Wiskott-Aldrich Syndrome |
|
Nephropathy, Gingival bleeding, Inflammation of the large intestine, Acute leukemia, Arrhythmia, ... |
ORPHA:906 |
Turcot Syndrome With Polyposis |
|
Diarrhea, Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia,... |
ORPHA:99818 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic he... |
ORPHA:79087 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... |
OMIM:617006 |
Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, ... |
ORPHA:157794 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Tremor, Bicuspid aortic valve, Atrial septal defect, Recurrent l... |
OMIM:617744 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
Epidermolysis Bullosa Acquisita |
|
Atypical scarring of skin, Abdominal pain, Inflammation of the large intestine, Diabetes mellitus |
ORPHA:46487 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... |
ORPHA:436159 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... |
ORPHA:2198 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Immunoglobulin A Deficiency 1 |
|
Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina... |
OMIM:137100 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Solitary Fibrous Tumor |
|
Uterine neoplasm, Genital neoplasm, Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Vagi... |
ORPHA:2126 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... |
ORPHA:411593 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... |
ORPHA:363400 |
Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Sepsis, Tenesmus, Abnormality of connective tissue, Abnormal r... |
ORPHA:70475 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... |
ORPHA:326 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... |
OMIM:614700 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Recur... |
OMIM:619707 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level |
ORPHA:96181 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... |
OMIM:174900 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Neoplasm of the la... |
ORPHA:100083 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia |
ORPHA:369929 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Gait disturbance, Mildly elevated creatine kinase, Elevated circulating hepati... |
OMIM:618400 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... |
ORPHA:98813 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Sepsis, Abnor... |
ORPHA:70578 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... |
OMIM:620632 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract, Weight loss, Anorexia |
ORPHA:52416 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
Monosomy 13Q34 |
|
Insulin resistance, Hematochezia, Epistaxis, Hypercalcemia, Obesity, Hepatic steatosis, Prolonged... |
ORPHA:96168 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... |
OMIM:300400 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced... |
OMIM:607271 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
Juvenile Polyposis Syndrome |
|
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multip... |
ORPHA:2929 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... |
OMIM:618459 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... |
OMIM:202010 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... |
OMIM:615767 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adren... |
OMIM:619386 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
Immunodeficiency 70 |
|
Verrucae, Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Dec... |
OMIM:618969 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... |
OMIM:617872 |
Temple Syndrome |
|
Precocious puberty, Bifid uvula, Nasogastric tube feeding, Decreased response to growth hormone s... |
ORPHA:254516 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:619048 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... |
ORPHA:435660 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hypoglycemia |
OMIM:620137 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... |
OMIM:300291 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... |
OMIM:203300 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:616950 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Vasculitis, F... |
OMIM:617718 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Cholestasis, Cirrhosis, Hepatomegaly, Patent ductus arterios... |
OMIM:614576 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... |
ORPHA:528 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Hepat... |
OMIM:613101 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Adrenal hyperplasia, Cryptorchidism, Polycystic o... |
ORPHA:95699 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Recurrent respiratory infections, Decreased activity of mitochond... |
OMIM:619063 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lym... |
ORPHA:158057 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... |
OMIM:609529 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Malabsorption, Villous atrophy,... |
OMIM:600955 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... |
OMIM:613496 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Immunodeficiency 18 |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... |
OMIM:615615 |
Immunodeficiency 58 |
|
Allergic rhinitis, Esophagitis, Dysphagia, Recurrent cutaneous abscess formation, Chronic otitis ... |
OMIM:618131 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, ... |
ORPHA:100080 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Prolinuria, Enterocolitis, Calcium oxalate nephrolithiasis, Abdominal pain, I... |
OMIM:260005 |
Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat... |
ORPHA:100075 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency, Decreased activity of mitochondrial complex I |
OMIM:618238 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... |
ORPHA:264580 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Incr... |
OMIM:278000 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:66628 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... |
ORPHA:276 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... |
ORPHA:930 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Recurrent viral infections, Decreased lymphocyte proliferation i... |
ORPHA:572 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... |
OMIM:245480 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce... |
OMIM:619281 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:179494 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra... |
OMIM:612783 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res... |
OMIM:614069 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Decreased testic... |
OMIM:614962 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant Staphylococcus aure... |
OMIM:618282 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:151660 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... |
ORPHA:69663 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i... |
OMIM:300988 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Hamartoma, Weight loss, ... |
ORPHA:141152 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Recurrent lower re... |
OMIM:615139 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to thrive, Increased ci... |
OMIM:616050 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... |
ORPHA:435651 |
Shigellosis |
|
Urethritis, Cholestasis, Anorexia, Abdominal pain, Abnormal blood ion concentration, Purpura, Int... |
ORPHA:810 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Abnormal renal collecting system morphology, Vomiting, Hyperechogenic kidneys, Elbow flexion cont... |
OMIM:616809 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Cowden Syndrome 1 |
|
Recurrent infections, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningio... |
OMIM:158350 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole... |
ORPHA:369873 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
D-Glyceric Aciduria |
|
Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl... |
ORPHA:941 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cerebral vasculi... |
OMIM:243700 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Self-injurious behavior, Head-banging, Failure to thrive, Recu... |
OMIM:619575 |
Immunodeficiency 37 |
|
Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Ventricular septal defect, D... |
OMIM:620210 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Decreased circulating IgE, Sepsis, Decreased circulating IgG leve... |
OMIM:308230 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... |
OMIM:606069 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Glomerulopat... |
ORPHA:2348 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Splenomegaly, C... |
OMIM:618394 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... |
ORPHA:652 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Hepatosplenomegaly, Abnormal circulating interfer... |
ORPHA:391487 |
Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Decreased circulating antibody level, Abnormal cardiac septum morphology |
ORPHA:99811 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... |
ORPHA:79083 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... |
ORPHA:65682 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... |
OMIM:276700 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Hypersplenism, Increased circulating antib... |
ORPHA:3261 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ... |
OMIM:301082 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Colitis, Congenital hypothyroidism, Obesity |
ORPHA:88643 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Decreased circulating IgA level, Def... |
OMIM:617514 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Decre... |
OMIM:615577 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Lymphoma, Abnormal circulating lipid concentration, Insulin-resistant diabete... |
ORPHA:79086 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Dilated card... |
ORPHA:3243 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... |
ORPHA:2137 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Broad-based gait, Bronchiectasis, Hypertrophic cardiomyopathy, T... |
OMIM:619705 |
Porphyria Cutanea Tarda |
|
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hematologic... |
ORPHA:101330 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... |
ORPHA:911 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failure to thrive,... |
OMIM:614602 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Hernia, Constip... |
ORPHA:26790 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Abnormal bleeding... |
ORPHA:319218 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity |
ORPHA:329249 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Hepatosplenomegaly, Nausea and vomiting, Melan... |
ORPHA:1333 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
Hirschsprung Disease |
|
Diarrhea, Sepsis, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tr... |
ORPHA:388 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Immunodeficiency 44 |
|
Post-vaccination measles, Severe viral infection, Decreased circulating IgA level, Abnormal circu... |
OMIM:616636 |
Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Pol... |
OMIM:615547 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Recurren... |
OMIM:212140 |
Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... |
ORPHA:85450 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infections, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral in... |
ORPHA:83471 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Failure to thrive |
OMIM:610768 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... |
OMIM:613327 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent streptococcal inf... |
ORPHA:183675 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... |
ORPHA:329971 |
Spermatogenic Failure 14 |
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Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Immunodeficiency 97 With Autoinflammation |
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Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infecti... |
OMIM:619802 |
Syndromic Diarrhea |
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Colitis, Hepatoblastoma, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Patent ductus arte... |
ORPHA:84064 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... |
OMIM:301220 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Abnormal myelination |
ORPHA:431329 |
Cortisone Reductase Deficiency 2 |
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Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche |
OMIM:614662 |
Immunodeficiency 76 |
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Recurrent pneumonia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Colitis, Chronic dia... |
OMIM:619164 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Cellulitis, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion contracture, Arthritis, E... |
OMIM:604416 |
Hemorrhagic Fever-Renal Syndrome |
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Chronic kidney disease, Diarrhea, Hyperphosphatemia, Decreased body weight, Hematuria, Acute tubu... |
ORPHA:340 |
Mpi-Cdg |
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Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hep... |
ORPHA:79319 |
Obesity And Hypopigmentation |
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Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
Infection-Related Hemolytic Uremic Syndrome |
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Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co... |
ORPHA:544482 |
Glucocorticoid Deficiency 3 |
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Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... |
OMIM:609197 |
Ciliary Dyskinesia, Primary, 29 |
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Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Decreased circulating anti... |
OMIM:615872 |
Type 1 Diabetes Mellitus |
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Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... |
OMIM:222100 |
Immunodeficiency 57 With Autoinflammation |
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Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... |
OMIM:618108 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Somatostatinoma |
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Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97283 |
Immunodeficiency 47 |
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Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... |
OMIM:300972 |
Immunodeficiency 67 |
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Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... |
OMIM:607676 |
Diarrhea 8, Secretory Sodium, Congenital |
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Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Leptin Receptor Deficiency |
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Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... |
OMIM:614963 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
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Pancreatitis |
OMIM:618230 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Recurrent infections, Decreased mitochondrial number, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Carnitine Palmitoyltransferase I Deficiency |
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Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Abnormal myelination |
ORPHA:401830 |
Hypotonia-Cystinuria Syndrome |
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Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, H... |
OMIM:606407 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hypoalbuminemia, Broad-based gait, Microcytic anemia, Failure to thrive in infancy, Hepatic steat... |
OMIM:618805 |
Adrenocortical Carcinoma |
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Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Undifferentiated Pleomorphic Sarcoma |
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Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology, Anorexia |
ORPHA:2023 |
Sepsis In Premature Infants |
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Diarrhea, Decreased body weight, Abdominal distention, Hepatomegaly, Jaundice, Elevated circulati... |
ORPHA:90051 |
20Q13.33 Microdeletion Syndrome |
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Failure to thrive in infancy, Hematochezia, Hypospadias, Small for gestational age |
ORPHA:261311 |
46,Xy Sex Reversal 5 |
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Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:613080 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Recurrent infections, Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Decreased ... |
ORPHA:169160 |
Citrullinemia, Type Ii, Adult-Onset |
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Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Dica... |
OMIM:201475 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Dysmetria, Abnormal subcutaneous fat... |
OMIM:212065 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... |
OMIM:609734 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating hepatic transaminase concentrat... |
ORPHA:298 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Inflammation of the large intestine, Diarrhea, Periodontitis, Prolonged bleeding following proced... |
ORPHA:79259 |
Citrullinemia Type Ii |
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Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Agammaglobulinemia 9, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia |
OMIM:619693 |
Huntington Disease |
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Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... |
ORPHA:399 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Familial Colorectal Cancer Type X |
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Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop... |
ORPHA:440437 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Decreased serum estradiol, Broad-based gait, Recurrent viral infections, Elevated circulating hep... |
ORPHA:2959 |
Familial Glucocorticoid Deficiency |
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Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
Cushing Disease |
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Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... |
ORPHA:96253 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
Agammaglobulinemia, X-Linked |
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Cor pulmonale, Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatom... |
OMIM:300755 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
X-Linked Agammaglobulinemia |
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Cellulitis, Recurrent pneumonia, Sepsis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorpti... |
ORPHA:47 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Immunoglobulin Kappa Light Chain Deficiency |
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Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect... |
OMIM:614102 |
Visceral Myopathy 2 |
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Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... |
OMIM:619350 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Abnormal myelination |
ORPHA:401820 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgG level, Secundum atrial septal defect, Decreased circulating IgA level, ... |
OMIM:611926 |
Sneddon Syndrome |
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Ischemic stroke, Tremor, Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating total ... |
OMIM:182410 |
Aids Wasting Syndrome |
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Malnutrition, Malabsorption, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Wei... |
ORPHA:90081 |
Fanconi-Bickel Syndrome |
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Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... |
ORPHA:2088 |
Inflammatory Bowel Disease 3 |
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Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
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Ulcerative colitis |
OMIM:612354 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Cellulitis, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolit... |
OMIM:614878 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98793 |
Graves Disease |
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Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Polyphagia, Weig... |
OMIM:275000 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... |
OMIM:266510 |
Ménétrier Disease |
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Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut... |
ORPHA:2494 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... |
ORPHA:369840 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... |
OMIM:613662 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177904 |
Wiskott-Aldrich Syndrome |
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Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Increased circulat... |
OMIM:301000 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177901 |
Fatty Liver Disease, Susceptibility To, 1 |
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Hepatic steatosis |
OMIM:613282 |
Ddost-Cdg |
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Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
Fatty Liver Disease, Susceptibility To, 2 |
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Hepatic steatosis |
OMIM:613387 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Dicarboxylic ... |
ORPHA:228308 |
Intestinal Dysmotility Syndrome |
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Decreased intestinal transit time, Diarrhea, Failure to thrive, Projectile vomiting, Weight loss,... |
OMIM:620045 |
Rhabdoid Tumor |
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Hypercalcemia, Nausea and vomiting, Hematuria, Neoplasm of the liver, Weight loss, Internal hemor... |
ORPHA:69077 |
Immunodeficiency 40 |
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Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... |
OMIM:616433 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... |
ORPHA:280365 |
Immunodeficiency 36 With Lymphoproliferation |
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Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Familial Adenomatous Polyposis 1 |
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Osteoma, Keloids, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polypos... |
OMIM:175100 |
Pediatric-Onset Graves Disease |
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Diarrhea, Nausea and vomiting, Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 con |