Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
OMIM:603552 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Diarrhea 13 |
|
Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... |
OMIM:613752 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Hyperins... |
ORPHA:79237 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Whim Syndrome 1 |
|
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... |
OMIM:193670 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of... |
ORPHA:543 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:232700 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia, Hypoornithin... |
OMIM:615751 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut... |
ORPHA:79477 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... |
OMIM:603553 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Polycystic ov... |
ORPHA:275555 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... |
OMIM:614857 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, A... |
ORPHA:79312 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
ORPHA:540 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... |
OMIM:620211 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Lymphangiectasis |
OMIM:602579 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia, Galactosuria |
OMIM:230200 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Cholelithiasis |
ORPHA:171876 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... |
OMIM:616222 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Mpi-Cdg |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Portal hypertension |
ORPHA:79319 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... |
ORPHA:1667 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N... |
ORPHA:289916 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism |
ORPHA:1381 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Adrenal calcificatio... |
OMIM:278000 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Astigmatism, Anemia, Neutropenia |
OMIM:618067 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Hypoplasia of penis, Delayed puberty |
ORPHA:633 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Astigmatism, Neutropenia |
OMIM:620012 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... |
OMIM:598500 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria, Cataract, Hepatomegaly |
ORPHA:79238 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... |
OMIM:608104 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis |
ORPHA:367 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:613070 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulati... |
OMIM:614376 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Bilateral cryptorchidism, Developmental cataract, Neutropenia, Lymphopenia |
OMIM:616395 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:98850 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Neutropenia |
ORPHA:2643 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 46 |
|
Neutropenia, Conjunctivitis, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... |
ORPHA:549 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles... |
ORPHA:292 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... |
ORPHA:567544 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hyperammonemia, Neutropenia |
OMIM:618253 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren... |
OMIM:137920 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Lymphadenopathy,... |
OMIM:304790 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... |
OMIM:617093 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:79240 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ... |
ORPHA:47 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... |
ORPHA:83469 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Incre... |
OMIM:614307 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno... |
ORPHA:2686 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Eleva... |
OMIM:242900 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Hepatocellular carcinoma |
ORPHA:79273 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Hypergly... |
OMIM:606054 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... |
ORPHA:100924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellul... |
OMIM:617303 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Type II diabetes mellitus, Di... |
ORPHA:2377 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Neutropenia, Nephro... |
OMIM:232220 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio... |
OMIM:620366 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Bone ma... |
ORPHA:445038 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:619468 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma |
OMIM:603776 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Cataract, Hydrou... |
OMIM:222300 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Abnormality of thyroid physiology, Microscopic hematuria, Minimal change glomeru... |
ORPHA:1830 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... |
ORPHA:329918 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea,... |
ORPHA:3085 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hypo... |
OMIM:619487 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Hashimoto thyroiditis, Elevated circulating C-re... |
ORPHA:49041 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor... |
ORPHA:186 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopeni... |
ORPHA:520 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Abnormal renal corti... |
OMIM:616733 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... |
OMIM:619644 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cataract, Hypospadias, Hyperammonemia, Renal tubular acidosis, Neutropenia, Hyperalaninemia |
OMIM:615471 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... |
OMIM:617156 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ... |
OMIM:251110 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Abnormality of the ureter, Microcornea, Delayed puberty... |
ORPHA:819 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur... |
ORPHA:77296 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ... |
ORPHA:381 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Renal hypoplasia, Horseshoe kidney, Astigm... |
OMIM:609053 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R... |
OMIM:600901 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Proteinuria, Bilateral cryptorchidism, Astigmatism, Male hypogonadism, Micr... |
OMIM:619471 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... |
OMIM:609981 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ... |
ORPHA:3392 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, T... |
OMIM:227650 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Conjunctivitis, N... |
ORPHA:293173 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:167 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R... |
OMIM:227645 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Splenomegaly, Eryt... |
OMIM:612541 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Thrombocytopenia, Ne... |
ORPHA:398124 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, A... |
ORPHA:99812 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Throm... |
OMIM:277380 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... |
ORPHA:36234 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, Delayed puberty, Ane... |
ORPHA:79259 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... |
ORPHA:97289 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract |
ORPHA:523 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Ep... |
ORPHA:2035 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, ... |
OMIM:301082 |
Vici Syndrome |
|
Lymphopenia, Cataract, Left ventricular hypertrophy, Elevated circulating creatine kinase concent... |
OMIM:242840 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Hepatomegaly, Cataract, Renal insufficiency, Elevated circulating creatine ... |
OMIM:608836 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hypoalbuminem... |
OMIM:235510 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Neutro... |
OMIM:300755 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia, Steatorrhea |
OMIM:618752 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T... |
ORPHA:90674 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Liver abscess, Hypoalbuminemia, Anemia |
ORPHA:67 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp... |
ORPHA:699 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
H Syndrome |
|
Histiocytosis, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Lymphadenopathy, Hepat... |
ORPHA:168569 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... |
ORPHA:2479 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy |
OMIM:160900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepatic steatosis |
OMIM:618329 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, I... |
ORPHA:412 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi... |
OMIM:618885 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Decreased... |
ORPHA:14 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi... |
ORPHA:2169 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... |
OMIM:274150 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... |
ORPHA:276 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... |
ORPHA:465508 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... |
ORPHA:89842 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of renal corticomedul... |
OMIM:120330 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Labial pseudohypertr... |
OMIM:151660 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormality of the liver, Hepatocellu... |
ORPHA:79473 |
Shigellosis |
|
Hyponatremia, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, Microangi... |
ORPHA:810 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Neutrope... |
OMIM:557000 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, A... |
OMIM:227646 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Thrombocytopenia |
ORPHA:69077 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H... |
OMIM:251900 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... |
ORPHA:85443 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... |
ORPHA:275761 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Pancreatic cysts, Chronic kidney disease, Elevated circulating creatinine co... |
ORPHA:730 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... |
ORPHA:90060 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Elevated... |
OMIM:613095 |
Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukopenia, Conjunctivitis, Neu... |
OMIM:604173 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus... |
OMIM:214110 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, Cervix cancer, Lymphopenia, Parotitis |
ORPHA:51636 |
Pgm3-Cdg |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... |
ORPHA:443811 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size |
ORPHA:1867 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... |
ORPHA:29073 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... |
OMIM:619750 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Thrombocytosis, Hepatic ste... |
OMIM:212065 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Anemia |
ORPHA:97362 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ... |
OMIM:146200 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:79324 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, ... |
ORPHA:731 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Cryptorchidism, Developmental catar... |
ORPHA:221008 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Neuhauser Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Primary hypothyroidism, Hypercholesterolemia, Megalocornea |
OMIM:249310 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Cohen Syndrome |
|
Leukopenia, Neutropenia, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:216550 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Elevated circulating creatine kinase concentration, Elev... |
OMIM:610377 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocel... |
ORPHA:508542 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Corneal erosion, Conj... |
ORPHA:537 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Ocular albinism, Hepatosplenomegaly, ... |
OMIM:608233 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutr... |
OMIM:613989 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Zonular cataract, Thrombocytopenia |
OMIM:616271 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:90051 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Nephrotic s... |
ORPHA:39041 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Hepatosplenomegaly, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, A... |
ORPHA:505248 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinos... |
ORPHA:534 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
ORPHA:824 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, 3-Methylglu... |
OMIM:302060 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Hypospadias, Cryptorchidism, Developmental cataract, Neutr... |
ORPHA:163956 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormal morphology of female internal genitalia, Corneal dystrophy, Cataract |
ORPHA:1839 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Eleva... |
ORPHA:79284 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... |
ORPHA:2237 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Developmental g... |
ORPHA:124 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Trichothiodystrophy |
|
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Developmental cataract, Micr... |
ORPHA:33364 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension |
ORPHA:401923 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicul... |
OMIM:300322 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrh... |
ORPHA:90363 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin... |
OMIM:266900 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Decreased circulating copper concentration, Sp... |
OMIM:300972 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... |
OMIM:607944 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney... |
ORPHA:439232 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Neutropenia |
ORPHA:33110 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Leukopenia, Hypotriglyceridemia... |
ORPHA:2298 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Recurrent corneal erosions, Increased blood urea n... |
OMIM:223900 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia |
ORPHA:90790 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... |
ORPHA:677 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... |
ORPHA:209902 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:160 |
Aspergillosis |
|
Keratitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Conjunctivit... |
OMIM:617591 |
Leigh Syndrome |
|
Cataract, Generalized aminoaciduria, Lacticaciduria, Methylmalonic aciduria, Renal tubular dysfun... |
ORPHA:506 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Cryptorchidism, Developmental cataract, Leukemia, Neutropenia, Juven... |
ORPHA:221016 |
Cohen Syndrome |
|
Cryptorchidism, Neutropenia, Iris coloboma, Delayed puberty |
ORPHA:193 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In... |
ORPHA:525731 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... |
ORPHA:2457 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... |
ORPHA:230 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Steatorrhea, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia |
OMIM:617941 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of... |
OMIM:260400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... |
OMIM:275350 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Abnormality of the menstrual cycle, Keratitis, ... |
ORPHA:906 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper... |
OMIM:613658 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Peters anomaly, Renal hypoplasia, Corneal scarring, Renal cyst, Buphthalmos... |
OMIM:618460 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Alagille Syndrome 1 |
|
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, Multiple small medullary... |
OMIM:118450 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cataract, Decreased cir... |
OMIM:240300 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... |
ORPHA:247691 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... |
ORPHA:293978 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea |
OMIM:600705 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hyperlipidemia, Hematuria, Xa... |
OMIM:232240 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Diabetes mellitus, Hypercholesterolemia, Liver abscess |
ORPHA:69663 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis... |
ORPHA:514 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokale... |
OMIM:219800 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Neutropenia, L... |
OMIM:615816 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia |
ORPHA:95613 |
Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology |
ORPHA:1764 |
Saul-Wilson Syndrome |
|
Cataract, Neutropenia |
OMIM:618150 |
Fusariosis |
|
Brain abscess, Lung abscess, Keratitis, Abnormality of the spleen, Granuloma, Neutropenia, Lympho... |
ORPHA:228119 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... |
ORPHA:1332 |
Nephroblastoma |
|
Aniridia, Hematuria, Lymphadenopathy |
ORPHA:654 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter... |
OMIM:612562 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Cataract, Menometrorrhagia, Ocular albinism, Astigmatism, Neutropenia, Iris ... |
ORPHA:79430 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type II diab... |
OMIM:615812 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Nephrocalcinosis, Hypothyroidism, Neutropenia |
OMIM:618005 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Megaloblastic anemia, ... |
ORPHA:79282 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... |
ORPHA:2330 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis |
OMIM:610125 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
Poems Syndrome |
|
Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Primary adrenal insufficien... |
ORPHA:2905 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated... |
ORPHA:2260 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia |
ORPHA:79139 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr... |
ORPHA:79124 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le... |
OMIM:615895 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hepatocellular carcinoma |
ORPHA:79276 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy |
ORPHA:142 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Vaginal a... |
OMIM:616258 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrim... |
ORPHA:449432 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Infertility, Leukemia, Neutropenia, Juvenile cataract, Anemia |
ORPHA:2909 |
Holoprosencephaly |
|
Hyponatremia, Abnormality of the spleen |
ORPHA:2162 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy... |
ORPHA:544482 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno... |
ORPHA:100093 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de... |
OMIM:270400 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Cataract, Vacuolated lymphocytes, Neutropenia, Macroorchidism |
OMIM:208400 |
Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia |
ORPHA:91355 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Malakoplakia |
|
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Urina... |
ORPHA:556 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Symblepharon, Dysuria, Keratitis, Moderate albuminuria, Corneal erosio... |
ORPHA:95455 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... |
ORPHA:93126 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... |
OMIM:157640 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcin... |
ORPHA:1333 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... |
ORPHA:797 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, ... |
OMIM:248370 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Lymp... |
ORPHA:32960 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... |
ORPHA:93552 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Lathosterolosis |
|
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, A... |
OMIM:607330 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Lymphadenit... |
ORPHA:331235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Conjunc... |
ORPHA:36412 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ... |
ORPHA:340 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... |
OMIM:601186 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia |
OMIM:617914 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Elevated circulating C-reactive protein concentration, Anterior cham... |
ORPHA:91500 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... |
ORPHA:322 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Increased circula... |
OMIM:619534 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephritis, Ne... |
ORPHA:139402 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Thymoma, Ke... |
OMIM:269200 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... |
OMIM:618280 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive pr... |
ORPHA:1304 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:615688 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Keratitis, Abnorma... |
ORPHA:449563 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... |
OMIM:614527 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Hypercal... |
ORPHA:653 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Pa... |
ORPHA:99829 |
Zygomycosis |
|
Brain abscess, Renal insufficiency, Diabetes mellitus, Mediastinal lymphadenopathy, Chemosis, Neu... |
ORPHA:73263 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Mucopolysacchariduria, Hypocalcemia, Neutropenia, Anemia |
ORPHA:175 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus, Horseshoe kidney |
ORPHA:3320 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutropenia, Astigmatism, ... |
ORPHA:500095 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Astigmatism, Urinary retention, Neutropenia |
OMIM:617799 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, H... |
ORPHA:228426 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... |
OMIM:614083 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Conjunctivitis, Neutropenia |
OMIM:601495 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormality of the lymphatic system, Lymphadenopathy, Hematuria, Multiple... |
ORPHA:538 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Thrombocytopenia... |
OMIM:274000 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... |
OMIM:273395 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Abnormal conjunctiva morp... |
ORPHA:333 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Posterior subcapsular cataract, Neutropenia, Congenital hypothyroidism |
OMIM:271510 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Conjunctivitis, Conjunctival hyperemia |
OMIM:142680 |
Graft Versus Host Disease |
|
Hemophagocytosis, Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L... |
ORPHA:33226 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Renal insufficiency, Abscess, Eosinophilia, Abnormality of the endocri... |
ORPHA:228123 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Fu... |
ORPHA:391487 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Adrenocortical adenoma, Pheochromocytoma, P... |
ORPHA:139411 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Renal insufficiency, Glomerulonephritis, Thrombocytopenia, Thyroi... |
ORPHA:289390 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Hypoalbuminemia, Eosinophilia, Hepatomegaly |
ORPHA:75565 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase conce... |
ORPHA:99827 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Lymphadenopathy |
ORPHA:411703 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... |
OMIM:618419 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Lymphaden... |
OMIM:619418 |
Squamous Cell Carcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424019 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Thrombocyt... |
OMIM:305000 |
Sponastrime Dysplasia |
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Cataract, Hypospadias, Precocious puberty, Neutropenia, Microcoria, Hypothyroidism, Congenital ap... |
ORPHA:93357 |
Melkersson-Rosenthal Syndrome |
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Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor |
ORPHA:363618 |
Familial Mediterranean Fever |
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Proteinuria, Orchitis, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephr... |
ORPHA:342 |
Immunodeficiency 31C |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
3-Methylglutaconic Aciduria, Type Viii |
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3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Cataract, Neutropenia |
OMIM:617248 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Lipodystrophy, Familial Partial, Type 7 |
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Cataract, Hypertriglyceridemia, Polyuria, Developmental cataract, Type I diabetes mellitus, Hyper... |
OMIM:606721 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Limb-Mammary Syndrome |
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Absent nipple, Chronic irritative conjunctivitis, Primary amenorrhea, Bilateral breast hypoplasia... |
ORPHA:69085 |
Norrie Disease |
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Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Sclerocornea, Cataract, Ectop... |
ORPHA:649 |
Klatskin Tumor |
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Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
Neuroendocrine Neoplasm Of Appendix |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adrenocorticotropic hormon... |
ORPHA:100079 |
Acromesomelic Dysplasia 3 |
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Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Primary Hepatic Neuroendocrine Carcinoma |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... |
ORPHA:100085 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Floating-Harbor Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neph... |
ORPHA:2044 |
Hennekam Syndrome |
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Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Hypo... |
ORPHA:2136 |
Malt Lymphoma |
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Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Neuroendocrine Tumor Of The Colon |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased serum serotonin, Atypical pulmonar... |
ORPHA:100080 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Q Fever |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Hematuria, Gra... |
ORPHA:781 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Behçet Disease |
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Renal insufficiency, Cataract, Orchitis, Splenomegaly, Lymphadenopathy, Keratoconjunctivitis sicca |
ORPHA:117 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Tubulointer... |
ORPHA:79078 |
Floating-Harbor Syndrome |
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Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ... |
OMIM:136140 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Ectopia pupill... |
OMIM:194190 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia, Renal cyst, Bifid ureter |
OMIM:617107 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology... |
OMIM:236680 |
Blau Syndrome |
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Cataract, Keratitis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Nephropathy, ... |
ORPHA:90340 |
Okamoto Syndrome |
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Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Astigmatism, Urete... |
ORPHA:2729 |
Neuroendocrine Tumor Of Stomach |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Iron defic... |
ORPHA:100075 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... |
OMIM:130050 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... |
ORPHA:536 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
Pulmonary Capillary Hemangiomatosis |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Ileal Neuroendocrine Tumor |
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Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased serum serotonin, Hy... |
ORPHA:100078 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Crypt... |
ORPHA:709 |
African Trypanosomiasis |
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Hepatomegaly, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Abno... |
ORPHA:3385 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Astigmatism, Aplasia ... |
OMIM:135900 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Pterygium, Cataract, Bifid uterus |
OMIM:256520 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Leptospirosis |
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Hepatomegaly, Cellular urinary casts, Lymphadenopathy, Hyperproteinemia, Conjunctival hyperemia, ... |
ORPHA:509 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Pmm2-Cdg |
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Reduced thyroxin-binding globulin, Abnormal liver parenchyma morphology, Hypoalbuminemia, Hepatic... |
ORPHA:79318 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Renovascular hype... |
ORPHA:286 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Ureteral duplication, Cataract, Hypospadias, Bilobate gallbladder, Cryp... |
OMIM:261540 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Renal artery stenosis |
ORPHA:391665 |
Chikungunya |
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Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Adenocarcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424016 |
Pallister-Killian Syndrome |
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Small scrotum, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplast... |
OMIM:601803 |